Osteoglosphonic Dysplasia

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Retrieved

2021-01-23

Source

Orphanet

Trials

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Genes

FGFR1, PIK3CG, PIK3CD, PIK3CB, PIK3CA, HIF1A, AKT1, MAPK1, VEGFA, EPHB2, SLC1A2, SOD1, CASP3, CASP9, MIR132, MIR181C, MSC, USP8, BECN1, ULK1, AIMP2, XBP1, VWF, VEGFC, MIR183, NTN1, MIR210, MIR29A, MIR30B, TRPC6, MIR133B, TNF, THBS1, MIR377, GRAP2, RNF41, MALAT1, KLF2, TSPAN33, NEAT1, TSLP, MOAP1, MIR134, NEUROG2, SPHK2, MEG3, TNFRSF12A, SLC25A37, POLDIP2, RNF19A, SIRT1, TEK, RNPS1, AHSA1, SEMA3A, VSIG4, FXYD1, CCL2, CBS, FGFR2, FGFR3, PTK2B, EZH2, ELK1, DDIT3, MAPK14, CRK, CAT, GABPA, CASR, CASP1, BDNF, BCL2, AQP4, BIRC5, ANXA2, ANGPT2, FKBP3, GLRX, PTEN, MBP, ANGPT1, SERPINF1, SERPINE1, OCA2, NOTCH1, NFE2L2, MMP9, MMP2, CXCL10, GRIN2A, IL10, IL6, IL1B, ID2, HSPA5, HMGB1, CXCL1, GRIN2B, C20orf181

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A rare disorder characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth.

Epidemiology

Less than ten cases have been reported so far.

Clinical description

Main clinical features include craniosynostosis, acrocephaly, a prominent forehead, depressed nasal bridge, hypertelorism, midface hypoplasia, macroglossia, unerupted teeth, short neck, short and bowed limbs, short and broad hands and fingers, and flat feet. The main radiographic features are craniostenosis, fibrous dysplasia, metaphyseal lucencies and platyspondyly. Intelligence is usually normal.

Etiology

Osteoglosphonic dysplasia (OGD) is caused by mutations in the FGFR1 gene (8p11.2-p11.1).

Genetic counseling

OGD is transmitted in an autosomal dominant manner.